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Gene sequencing breakthrough could solve mystery of intellectual disability

NCT ID NCT04154891

Diagnosis Sponsor: Institut National de la Santé Et de la Recherche Médicale, France Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested whether whole genome sequencing (WGS) can find more genetic causes of intellectual disability than current standard tests. Researchers compared WGS to usual methods in 3825 children and adults with unexplained intellectual disability. The goal was to see if WGS gives a diagnosis more often and more cost-effectively.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

3,825 people

The number who actually took part.

Started

Mar 2020

Finished

Jun 2025

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

1. Inclusion criteria for children or adults with ID of unknown etiology (index case) In order to be eligible to participate in this study, an individual must meet all the following criteria: * Age: 1. Between 0 and 5 years with stringent criteria (severe delayed development in terms of motor skills, language, and/or sociability) OR 2. ≥ 6 years: patients with ID, whatever the severity (but with proven ID by ad hoc neuropsychological testing) and the associated manifestations * Without any obvious diagnosis identified during a genetic consultation in one of the participating center (i.e., an obvious syndrome with ID with well-known molecular diagnosis is excluded); * Provision of signed and dated of "participant" consent form; * Stated willingness to comply with all study procedures and availability for the duration of the study. Patient with a social security in compliance with the French law (Provisions relating to research involving the human person provided for in Articles L 1121-1 et seq. of the French Public Health Code). 2. Inclusion criteria for biological parents \- Provision of signed and dated of both parents consent form. 3. Non-inclusion criteria * An individual, who presents any condition which in the investigator's opinion makes it undesirable for the subject to participate in the trial or which would jeopardize compliance with the protocol, will not be eligible; * Patients with isolated learning disabilities; * One or both parents with ID; * Parent placed under judicial protection (tutelle, curatelle et sauvegarde de justice) ; * Patient with a known etiological diagnosis (non-genetic, previously proven Fra-X syndrome, know chromosomal anomaly, known pathogenic or probably pathogenic variant identified in an ID gene by any technique). * For patient concerning by biobank project: hypersensitivity to local anesthesia

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Conditions

The condition(s) this trial relates to.

disease intellectual disability Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Intellectual disability

Contacts and locations

Locations

  • Assistance publique - Hôpitaux de Marseille

    Marseille, France

  • Assistance publique - Hôpitaux de Paris - Groupe Hospitalier Pitié Salpétrière

    Paris, France

  • Assistance publique - Hôpitaux de Paris - Hôpital Necker - Enfants malades

    Paris, France

  • CHRU Lille

    Lille, France

  • CHU Bordeaux

    Bordeaux, France

  • CHU Dijon

    Dijon, France

  • CHU Montpellier

    Montpellier, France

  • CHU Nantes

    Nantes, France

  • CHU Rennes

    Rennes, France

  • CHU Rouen

    Rouen, France

  • CHU Strasbourg

    Strasbourg, France

  • CHU d'Angers

    Angers, 49000, France

  • CHU de Grenoble-Alpes

    La Tronche, 38700, France

  • Hospices Civil de Lyon

    Bron, France

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